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| Fatty Acid Oxidation Defects v1.8 | HADHB | Zornitza Stark Tag treatable tag was added to gene: HADHB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.72 | HADHB |
Zornitza Stark changed review comment from: The HADHA (600890) and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The heterocomplex contains 4 alpha and 4 beta subunits and catalyzes 3 steps in the beta-oxidation of fatty acids, including the long-chain 3-hydroxyacyl-CoA dehydrogenase step. The beta subunit harbors the 3-ketoacyl-CoA thiolase activity. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy. Peripheral neuropathy also reported. Well established gene-disease association.; to: The HADHA and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The heterocomplex contains 4 alpha and 4 beta subunits and catalyzes 3 steps in the beta-oxidation of fatty acids, including the long-chain 3-hydroxyacyl-CoA dehydrogenase step. The beta subunit harbors the 3-ketoacyl-CoA thiolase activity. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy. Peripheral neuropathy also reported. Well established gene-disease association. |
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| Fatty Acid Oxidation Defects v0.72 | HADHA |
Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. The HADHA and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The heterocomplex contains 4 alpha and 4 beta subunits and catalyzes 3 steps in the beta-oxidation of fatty acids, including the long-chain 3-hydroxyacyl-CoA dehydrogenase step. The beta subunit harbors the 3-ketoacyl-CoA thiolase activity. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy. |
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| Fatty Acid Oxidation Defects v0.72 | HADHB | Zornitza Stark Marked gene: HADHB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.72 | HADHB | Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.72 | HADHB | Zornitza Stark Phenotypes for gene: HADHB were changed from to Trifunctional protein deficiency, MIM# 609015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.71 | HADHB | Zornitza Stark Publications for gene: HADHB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.70 | HADHB | Zornitza Stark Mode of inheritance for gene: HADHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.69 | HADHB | Zornitza Stark reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30682426, 28515471; Phenotypes: Trifunctional protein deficiency, MIM# 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.0 | HADHB |
Zornitza Stark gene: HADHB was added gene: HADHB was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HADHB was set to Unknown |
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